Search Ontology:
Human Disease

glutamate formiminotransferase deficiency

Term ID
DOID:0111679
Synonyms
  • Arakawa syndrome 1
  • FIGLU-uria
  • formiminoglutamic acidemia
  • formiminoglutamic aciduria
  • formiminotransferase cyclodeaminase deficiency
  • formiminotransferase deficiency syndrome
  • FTCD deficiency
Definition
A vitamin metabolic disorder characterized by elevated formiminoglutamate in urine and plasma and variable intellectual, developmental, and hematological phenotypes that has_material_basis_in homozygous or compound heterozygous mutation in the FTCD gene on chromosome 21q22.3. (2)
References
Ontology
Human Disease   ( DOID:0111679 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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